RNA sequencing offers new diagnostic opportunities in neurodevelopmental disorders: A systematic review
Jessica Rosenblum, Ellen Rijckmans, Randy Osei, Katrien Janssens et autres
2 citationsGenetics in Medicine
Ellen Rijckmans
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7Publications signalées
62Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesParkinson's Disease Mechanisms and TreatmentsProtein Kinase Regulation and GTPase SignalingEpigenetics and DNA MethylationMitochondrial Function and Pathology
Publications récentes
“Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study”
Ellen Rijckmans, Lars De Strooper, Kathelijn Keymolen, Jessica Rosenblum et autres
0 citationsActa Neurologica Belgica
Counseling individuals with pathogenic loss-of-function variants in FLNA – learning points from a cross-sectional cohort study.
Ellen Rijckmans, Lars P. De Strooper, Kathelijn Keymolen, Jessica Rosenblum et autres
0 citationsResearch Square
Diagnostic work‐up in malformations of cortical development
Ellen Rijckmans, Katrien Stouffs, Anna Jansen
9 citationsDevelopmental Medicine & Child Neurology
Macrocephaly? Do not Forget SUFU
Ellen Rijckmans, Victoria Bordon, Thomy de Ravel, Elien Baert et autres
3 citationsPediatric Neurology
ActivatingRAC1variants in the switch II region cause a developmental syndrome and alter neuronal morphology
Siddharth Banka, Abigail Bennington, Martin J. Baker, Ellen Rijckmans et autres
47 citationsBrain
Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review
Ellen Rijckmans, Katrien Stouffs, Anna Jansen, Stefanie Brock
1 citationEuropean Journal of Paediatric Neurology
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